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Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G. Tham E, et al. Among authors: nordenskjold m. Clin Genet. 2015 May;87(5):496-8. doi: 10.1111/cge.12466. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25060605 No abstract available.
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklöf O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjöld M, Hagenäs L, Dumanski JP. Grigelioniene G, et al. Among authors: nordenskjold m. Hum Genet. 2001 Nov;109(5):551-8. doi: 10.1007/s00439-001-0609-y. Epub 2001 Oct 19. Hum Genet. 2001. PMID: 11735031
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases.
Nordgren A, Heyman M, Sahlén S, Schoumans J, Söderhäll S, Nordenskjöld M, Blennow E. Nordgren A, et al. Among authors: nordenskjold m. Eur J Haematol. 2002 Jan;68(1):31-41. doi: 10.1034/j.1600-0609.2002.00547.x. Eur J Haematol. 2002. PMID: 11952819
Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles.
Kuchinskaya E, Heyman M, Grandér D, Linderholm M, Söderhäll S, Zaritskey A, Nordgren A, Porwit-Macdonald A, Zueva E, Pawitan Y, Corcoran M, Nordenskjöld M, Blennow E. Kuchinskaya E, et al. Among authors: nordenskjold m. Eur J Haematol. 2005 Jun;74(6):466-80. doi: 10.1111/j.1600-0609.2005.00433.x. Eur J Haematol. 2005. PMID: 15876250
331 results